Details for: CDSN

Gene ID: 1041

Symbol: CDSN

Ensembl ID: ENSG00000204539

Description: corneodesmosin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 11.7008
    Cell Significance Index: -1.8200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 7.3726
    Cell Significance Index: -1.8700
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 2.9631
    Cell Significance Index: 6.6800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.2674
    Cell Significance Index: -2.7700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.0434
    Cell Significance Index: 26.0200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.6273
    Cell Significance Index: 20.0900
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.4774
    Cell Significance Index: 2.5100
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.3931
    Cell Significance Index: 5.7300
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.2760
    Cell Significance Index: 2.4500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.2087
    Cell Significance Index: 4.3300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1722
    Cell Significance Index: 4.9600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1652
    Cell Significance Index: 9.9200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1288
    Cell Significance Index: 20.9500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1005
    Cell Significance Index: 6.9500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0994
    Cell Significance Index: 5.0200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.0917
    Cell Significance Index: 1.8700
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.0729
    Cell Significance Index: 0.4500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0697
    Cell Significance Index: 3.6200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0660
    Cell Significance Index: 1.4300
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.0584
    Cell Significance Index: 0.8100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0433
    Cell Significance Index: 3.3200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0366
    Cell Significance Index: 0.5400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0291
    Cell Significance Index: 0.6200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0281
    Cell Significance Index: 0.4000
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.0257
    Cell Significance Index: 0.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0256
    Cell Significance Index: 1.9100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0172
    Cell Significance Index: 0.3400
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0160
    Cell Significance Index: 0.2300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0121
    Cell Significance Index: 22.4000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0095
    Cell Significance Index: 14.6700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0057
    Cell Significance Index: 0.7000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0054
    Cell Significance Index: 0.9800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0047
    Cell Significance Index: 6.4400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0011
    Cell Significance Index: 0.6100
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0007
    Cell Significance Index: 0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0004
    Cell Significance Index: -0.6900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0013
    Cell Significance Index: -0.2600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0013
    Cell Significance Index: -0.4700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0021
    Cell Significance Index: -1.3700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0024
    Cell Significance Index: -1.8300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0028
    Cell Significance Index: -1.2600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0035
    Cell Significance Index: -0.1600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0053
    Cell Significance Index: -0.2300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0054
    Cell Significance Index: -3.0400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0059
    Cell Significance Index: -0.6800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0066
    Cell Significance Index: -1.1300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0071
    Cell Significance Index: -1.0400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0077
    Cell Significance Index: -1.5300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0080
    Cell Significance Index: -1.0300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0092
    Cell Significance Index: -0.2300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0107
    Cell Significance Index: -1.0900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0129
    Cell Significance Index: -1.5000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0147
    Cell Significance Index: -0.2000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0171
    Cell Significance Index: -1.7800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0186
    Cell Significance Index: -0.2800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0221
    Cell Significance Index: -0.5100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0253
    Cell Significance Index: -1.1900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0253
    Cell Significance Index: -0.7100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0261
    Cell Significance Index: -1.6000
  • Cell Name: salivary gland cell (CL0009005)
    Fold Change: -0.0290
    Cell Significance Index: -0.3600
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.0311
    Cell Significance Index: -0.5000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0403
    Cell Significance Index: -2.2600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0406
    Cell Significance Index: -1.4900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0420
    Cell Significance Index: -1.4700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0427
    Cell Significance Index: -1.5000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0468
    Cell Significance Index: -1.4900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0470
    Cell Significance Index: -1.5400
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.0485
    Cell Significance Index: -0.6300
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0504
    Cell Significance Index: -0.6800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0525
    Cell Significance Index: -2.3200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0535
    Cell Significance Index: -2.1900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0542
    Cell Significance Index: -1.7200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0595
    Cell Significance Index: -1.0200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0609
    Cell Significance Index: -1.5200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0624
    Cell Significance Index: -1.7900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0642
    Cell Significance Index: -2.4300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0648
    Cell Significance Index: -1.5800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0660
    Cell Significance Index: -0.9500
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0671
    Cell Significance Index: -1.7100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0689
    Cell Significance Index: -1.7600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0694
    Cell Significance Index: -1.8900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0697
    Cell Significance Index: -1.5100
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0704
    Cell Significance Index: -0.8500
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -0.0722
    Cell Significance Index: -0.6200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0726
    Cell Significance Index: -1.5400
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0751
    Cell Significance Index: -1.8200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0754
    Cell Significance Index: -1.1300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0757
    Cell Significance Index: -1.5200
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: -0.0757
    Cell Significance Index: -0.2900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0758
    Cell Significance Index: -1.3100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0807
    Cell Significance Index: -1.6000
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0818
    Cell Significance Index: -1.6100
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0830
    Cell Significance Index: -1.2600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0879
    Cell Significance Index: -1.8400
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.0896
    Cell Significance Index: -1.3400
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0901
    Cell Significance Index: -1.4600
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.0918
    Cell Significance Index: -1.2100
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: -0.0918
    Cell Significance Index: -1.0800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0931
    Cell Significance Index: -1.4400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0935
    Cell Significance Index: -1.5700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Corneodesmosin is a 15-kDa protein, consisting of a single chain with a molecular weight of approximately 140 amino acids. It is expressed in various epithelial tissues, including the skin, lung, colon, and small intestine. CDSN is primarily secreted by keratinocytes, which are the main cell type of the epidermis. The protein is highly conserved across species, suggesting its essential role in maintaining epidermal homeostasis. **Pathways and Functions:** CDSN plays a crucial role in regulating keratinocyte differentiation, cornification, and desquamation. It is involved in the following pathways: 1. **Amyloid fibril formation:** CDSN is associated with the formation of amyloid fibrils, which are characteristic of certain skin disorders, such as epidermolysis bullosa. 2. **Cell-cell adhesion:** CDSN interacts with other proteins, such as desmogleins and desmocollins, to regulate cell-cell adhesion in the epidermis. 3. **Cell-cell junction:** CDSN is involved in the formation and maintenance of desmosomes, which are essential for maintaining tissue integrity. 4. **Keratinocyte differentiation:** CDSN regulates the process of keratinocyte differentiation, ensuring that keratinocytes acquire the necessary characteristics to form a functional epidermis. 5. **Negative regulation of cornification:** CDSN inhibits the process of cornification, which is essential for the formation of the cornified envelope, a critical component of the epidermis. **Clinical Significance:** CDSN has been implicated in various skin disorders, including: 1. **Epidermolysis bullosa:** Mutations in the CDSN gene have been associated with epidermolysis bullosa, a group of genetic disorders characterized by blistering and skin fragility. 2. **Pemphigus:** CDSN has been shown to be involved in the pathogenesis of pemphigus, a group of autoimmune diseases characterized by blistering of the skin and mucous membranes. 3. **Atopic dermatitis:** CDSN has been implicated in the pathogenesis of atopic dermatitis, a chronic inflammatory skin disease characterized by dry, scaly skin. 4. **Aging and skin cancer:** CDSN has been shown to be downregulated in aged skin and in skin cancer, suggesting its potential role in maintaining epidermal homeostasis and preventing cancer. In conclusion, corneodesmosin is a critical protein involved in regulating keratinocyte differentiation, cornification, and desquamation in the epidermis. Its dysregulation has been implicated in various skin disorders, highlighting the importance of CDSN in maintaining epidermal homeostasis and preventing disease. Further research is needed to fully elucidate the role of CDSN in human disease and to explore its potential as a therapeutic target.

Genular Protein ID: 2550064026

Symbol: CDSN_HUMAN

Name: Corneodesmosin

UniProtKB Accession Codes:

Q15517 B0S7V2 B0UYZ7 G8JLG2 O43509 Q5SQ85 Q5STD2 Q7LA70 Q7LA71 Q86Z04 Q8IZU4 Q8IZU5 Q8IZU6 Q8N5P3 Q95IF9 Q9NP52 Q9NPE0 Q9NPG5 Q9NRH4 Q9NRH5 Q9NRH6 Q9NRH7 Q9NRH8 Q9UBH8 Q9UIN6 Q9UIN7 Q9UIN8 Q9UIN9 Q9UIP0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 39 Ensembl 5 GO 14 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 1 RefSeq 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8415725

Title: Identification in the HLA class I region of a gene expressed late in keratinocyte differentiation.

PubMed ID: 8415725

DOI: 10.1073/pnas.90.20.9470

PubMed ID: 9712893

Title: Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation.

PubMed ID: 9712893

DOI: 10.1074/jbc.273.35.22640

PubMed ID: 12366786

Title: Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis.

PubMed ID: 12366786

DOI: 10.1034/j.1399-0039.2002.600110.x

PubMed ID: 16702430

Title: Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity.

PubMed ID: 16702430

DOI: 10.1534/genetics.106.057034

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11169256

Title: Identification of six novel polymorphisms in the human corneodesmosin gene.

PubMed ID: 11169256

DOI: 10.1034/j.1399-0039.2001.057001032.x

PubMed ID: 10599883

Title: Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris.

PubMed ID: 10599883

DOI: 10.1034/j.1399-0039.1999.540501.x

PubMed ID: 9395522

Title: Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes.

PubMed ID: 9395522

DOI: 10.1074/jbc.272.50.31770

PubMed ID: 12754508

Title: Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.

PubMed ID: 12754508

DOI: 10.1038/ng1163

PubMed ID: 20691404

Title: Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.

PubMed ID: 20691404

DOI: 10.1016/j.ajhg.2010.07.005

PubMed ID: 10844560

Title: S gene (Corneodesmosin) diversity and its relationship to psoriasis; high content of cSNP in the HLA-linked S gene.

PubMed ID: 10844560

DOI: 10.1046/j.1523-1747.2000.00002.x

PubMed ID: 12472658

Title: Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).

PubMed ID: 12472658

DOI: 10.1034/j.1399-0039.2002.600403.x

Sequence Information:

  • Length: 529
  • Mass: 51607
  • Checksum: 01BF5C83AE68E772
  • Sequence:
    • MGSSRAPWMG RVGGHGMMAL LLAGLLLPGT LAKSIGTFSD PCKDPTRITS PNDPCLTGKG 
DSSGFSSYSG SSSSGSSISS ARSSGGGSSG SSSGSSIAQG GSAGSFKPGT GYSQVSYSSG 
SGSSLQGASG SSQLGSSSSH SGNSGSHSGS SSSHSSSSSS FQFSSSSFQV GNGSALPTND 
NSYRGILNPS QPGQSSSSSQ TFGVSSSGQS VSSNQRPCSS DIPDSPCSGG PIVSHSGPYI 
PSSHSVSGGQ RPVVVVVDQH GSGAPGVVQG PPCSNGGLPG KPCPPITSVD KSYGGYEVVG 
GSSDSYLVPG MTYSKGKIYP VGYFTKENPV KGSPGVPSFA AGPPISEGKY FSSNPIIPSQ 
SAASSAIAFQ PVGTGGVQLC GGGSTGSKGP CSPSSSRVPS SSSISSSSGL PYHPCGSASQ 
SPCSPPGTGS FSSSSSSQSS GKIILQPCGS KSSSSGHPCM SVSSLTLTGG PDGSPHPDPS 
AGAKPCGSSS AGKIPCRSIR DILAQVKPLG PQLADPEVFL PQGELLNSP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.